Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.119320487A= , CM000666.2:g.119320487A= | GRCh38 |
| NC_000004.11:g.120241642A= , CM000666.1:g.120241642A= | GRCh37 |
| NC_000004.10:g.120461090A= | NCBI36 |
| NG_011444.1:g.6675T= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000274024.4:c.240+183T= MANE Select | ENSP00000274024.3:n.240+183T= | |
| ENST00000274024.3:c.240+183T= | ENSP00000274024.3:n.240+183T= | |
| NM_000134.3:c.240+183T= | NP_000125.2:n.240+183T= | |
| NM_000134.4:c.240+183T= MANE Select | NP_000125.2:n.240+183T= |